Care of People with Learning Disabilities

1. Care of People with Learning Disabilities Dr James K. Betteridge September 2011

2. Outline • Introduction – Definition and Prevalence • Case • Classification • Assessment • Management • Examples • Down’s Syndrome • Fragile X

4. KeyMessages…RCGP • In managing patients with learning disabilities, GPs should: • Be aware of likely associated conditions and know where to obtain specialist advice • Understand how psychiatric and physical illness may present atypically in patients with LD who have sensory, communication and cognitive difficulties • Use additional skills of diagnosis and examination in patients unable to describe symptoms

5. Prevalence • 2.5 x associated medical problems • 3 x number of repeat prescription drugs prescribed by primary care • Major economic burden on NHS, Social Services and social security system

6. Definitions • WHO defines learning disabilities as: “a state of arrested or incomplete development of mind.” • It is a diagnosis but is not a physical or mental illness. • Three criteria are required before learning disabilities can be identified: • Intellectual impairment • Social or adaptive dysfunction (Poor Life Skills) • Early Onset – birth/ early childhood • Epidemiology – 1.5% of population

7. Case Illustration: Home Visit

10. Assessing Intellect Intelligent Quotient (IQ) • Standardized tests in different domains of intelligence • Median score is set at 100 with a standard deviation of 15 • This means 68% of population should have an IQ between 85 and 115

11. MENSA • Derivation “mens” Latin for Mind, “mensa” Latin for Table • A round-table society of minds • Need IQ above 98th percentile to join – i.e. IQ above 145.

12. LD Classification • Mild (IQ 50-70) – 80% • Not usually associated with abnormalities in appearance or behaviour • Language, sensory, motor abnormalities are mild or absent • Problems not apparent until school age • Difficulty coping with stress or more complex areas of social functioning e.g. parenting, financial management. • Usually live independently, engage in employment

13. LD Classification • Moderate (IQ 35-49) 12% • Limited language • Severe (IQ 20-34) and Profound (>20) 8% • Very limited communication and self-care skills • Associated physical disabilities • Epilepsy 33% • Inability to walk 15% • Incontinence 10% • May use non-verbal communication e.g. pointing, signing (Makaton)

14. Aetiology • Mild LD • No specific cause • Bottom end of normal distribution curve • Considerable genetic contribution • Correlation between low parental and low childhood IQ due to social and educational deprivation.

15. Aetiology • More severe LD • Usually related to specific brain damage • Antenatal • Genetic, Infective, Hypoxic, Related to maternal disease • Perinatal • Prematurity, Birth hypoxia, Intracerebral bleed • Postnatal • Infection, Injury (?NAI), malnutrition, hormonal, metabolic, toxic, epileptic

16. Genetic Causes of LD • Chromosomal • Down’s (Trisomy 21) • Klinefelter’s (XXY), Turner’s (X0), Fragile X • Autosmal Dominant • Tuberose sclerosis, neurofibromatosis • Autosmal recessive • Usually associated with a specific metabolic condition e.g. Phenylketonuria

17. Down Syndrome

18. Down Syndrome • Commonest specific cause of LD • LD usually moderate or severe but mild in 15% • Chromosomal condition caused by the presence of all or part of an extra 21st Chromosome • Named after Dr John Langdon Down 1866 • 1 in 733 births • More common in older parents due to increased mutagenic effects on reproductive organs

20. D.S – Clinical Features Learning disability • Language • (Language delay – difference between understanding and expressing speech) • Common to screen for hearing • Motor skills • Fine motor skills lag behind – can interfere with cognitive development • Gross motor skills vary – Walking age 2-4 • May benefit from physiotherapy to enhance

21. D.S. – Clinical Features

22. Screening for DS • Pregnant women in the UK are offered screening for Down Syndrome • Combined Test: • 85% detection rate, 5% False Positive • Ultrasound Scan (8-14/30 or first dating scan) • Nuchal translucency (fat pad behind neck) • Blood Test • Looks at Free Beta HCG and PAPPA (Pregnancy Associated Plasma Protein A • 2002 – Abortion rate of c. 92%

24. D.S. – Later Life • Life expectancy 49 (2002) • People with DS surviving beyond the age of 50 invariably develop neuropathological changes akin to Alzheimer’s disease visible on post mortem • At least 50% have clinical dementia

25. Fragile X • Second most common cause of LD • 1 in 36000 male and 1 in 5000 female births • Accounts for 8% of males with LD • Caused by expansion of a single trinucleotide gene sequence (CGG)on the X chromosome • Results in failure to express the protein coded by the FMR1 gene, which is required for normal neural development

26. Fragile X

27. Large Head Large Ears Connective Tissue Disorders Low Muscle Tone Flat Feet Macro-orchidism High arched palate Mitral Valve Prolapse Fragile X – Physical Features

28. Fragile X – Psychiatric Features • Abnormal speech • Impulsivity and hyperactivity • Hand-biting, hand flapping • Poor eye contact • Unusual responses to sensory stimuli • 4% have autistic features • Women often have less severe behavioural problems and only 1/3 have significant LD • WHY? Think genetics…..

29. LD and Psychiatric Illness • Making diagnoses difficult due to coexisting language deficits • Behavioural disturbance common : • Self-injurious, aggressive, inappropriate sexual • Schizophrenia has prevalence of 3% in LD • Simple, repetitive hallucinations • Depression and anxiety disorders higher than general population

30. Management of LD (1) • Most people with LD live with their families • Support from primary care, educational and social services • MILD • Children - mainstream school with support • Adult – support to work in mainstream jobs • Small minority with Severe/Profound and usually behavioural problems require residential care • MDT approach to coordinate services – specialist psychiatric services • Mental illness, Physical illness, Finances, Housing

31. Management of LD (2) • Need for accessible information for patients • May face distress at realisation: • They many not achieve full independence • Their parents are likely to die before they do • Issues surrounding sexuality • Sensitive but frank communication at a level the patient can understand is important • REMEMBER – people with LD, especially those living in institutions are at increased risk of physical, emotional and sexual abuse.